Variant report

Variant	rs7539094
Chromosome Location	chr1:47795541-47795542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47795529-47795553	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47778519..47780256-chr1:47794882..47796645,2	MCF-7	breast:
2	chr1:47779023..47781686-chr1:47794382..47795947,2	MCF-7	breast:

Variant related genes	Relation type
CMPK1	TF binding region
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11211496	0.91[AMR][1000 genomes]
rs11211502	0.91[AMR][1000 genomes]
rs11211507	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069506	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47780200-47798400	Weak transcription	Spleen	Spleen
2	chr1:47780600-47798000	Weak transcription	HSMMtube	muscle
3	chr1:47780800-47797800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:47789800-47796200	Weak transcription	K562	blood
5	chr1:47790200-47797400	Weak transcription	Fetal Intestine Large	intestine
6	chr1:47790600-47797000	Weak transcription	Pancreas	Pancrea
7	chr1:47790600-47797800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:47791800-47797600	Weak transcription	Fetal Intestine Small	intestine
9	chr1:47791800-47798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:47792400-47797600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:47792400-47797800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:47792600-47798000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:47792600-47798400	Weak transcription	Primary T cells from cord blood	blood
14	chr1:47792800-47798600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:47793200-47797600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:47793200-47797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:47793400-47796600	Weak transcription	Esophagus	oesophagus
18	chr1:47793600-47797400	Weak transcription	Fetal Brain Female	brain
19	chr1:47793600-47798000	Weak transcription	Left Ventricle	heart
20	chr1:47794000-47798200	Weak transcription	Ovary	ovary
21	chr1:47794200-47797800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:47794200-47798000	Weak transcription	Liver	Liver
23	chr1:47794600-47798000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:47794800-47795800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:47794800-47798000	Weak transcription	Fetal Brain Male	brain
26	chr1:47795000-47795600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:47795000-47795800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:47795200-47796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:47795200-47797800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:47795200-47798200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:47795200-47798200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:47795400-47797400	Weak transcription	Fetal Heart	heart
33	chr1:47795400-47797800	Weak transcription	Fetal Stomach	stomach

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